A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3426n100



Internal ID22789513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8685780..8717236hg38UCSC Ensembl
chr19:8796030..8827581hg19UCSC Ensembl
chr19:8657030..8688581hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3831457
hg1931552
hg1831552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065034, nsv1061784
Samples
Known GenesACTL9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3426n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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